Author

Su Ming Sun

Maastricht University Medical Centre

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 3 Research Focus:variant calling· 3 Assay:whole-genome sequencing· 3 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Research Focus:drug response / drug discovery· 1 Approach:experimental assay· 1

Frequent Co-Authors

Aimee D. C. PaulusseniD· 3 shared Arthur van den Wijngaard· 3 shared Debby M.E.I. HellebrekersiD· 3 shared Lisenka E.L.M. VissersiD· 3 shared Alexander P.A. StegmanniD· 2 shared Amber den OudeniD· 2 shared Christian GilisseniD· 2 shared Dorien LugtenbergiD· 2 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

3 shared papersGenetic & Genomic Medicine

Aimee D. C. PaulussenORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Clinical long-read genome sequencing for rare disease diagnostics

Tessa J.J. de Bitter, Bart P. G. H. van der Sanden, Lydia Sagath, Wolfram Höps, Peer Arts, Michelle de Groot, Marjan M. Weiss, Ronny C. Derks, Amber den Ouden, Simone van den Heuvel, Raoul Timmermans, Timon van Leeuwen, Jordi Corominas, Jos G.A. Smits, Lot Snijders Blok, , Lisenka E.L.M. Vissers

This study evaluates long-read genome sequencing in rare disease diagnostics, finding high concordance with standard-of-care tests and incremental diagnostic benefits.

New England Journal of Medicine · Jun 13, 2026Peer-reviewedGenetic & Genomic Medicine

Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing

A Janssen, Rebekka M. Koeck, Rick Essers, Ping Cao, Wanwisa van Dijk, Marion Drüsedau, Jeroen Meekels, Burcu Yaldiz, Maartje van de Vorst, Bart de Koning, Debby M.E.I. Hellebrekers, Servi J.C. Stevens, Su Ming Sun, Malou Heijligers, Sonja A. de Munnik, , Masoud Zamani Esteki

This paper introduces a whole genome sequencing-based haplarithmisis method for preimplantation genetic testing, improving coverage, reducing artifacts, and enabling new applications like trio-based aneuploidy detection.

Nature Communications · Sep 2, 2024Peer-reviewedGenetic & Genomic Medicine

Genome sequencing as a generic diagnostic strategy for rare disease

Gaby Schobers, Ronny C. Derks, Amber den Ouden, Hilde L. Swinkels, Jeroen van Reeuwijk, Ermanno Bosgoed, Dorien Lugtenberg, Su Ming Sun, Jordi Corominas, Marjan M. Weiss, Marinus J. Blok, Richelle A. C. M. Olde Keizer, Tom G. J. Hofste, Debby M.E.I. Hellebrekers, Nicole de Leeuw, , Lisenka E.L.M. Vissers

This study evaluates genome sequencing as a primary diagnostic tool for rare diseases, finding it can detect 95% of clinically relevant variants with a 0.3% false negative rate.

medRxiv · Sep 28, 2023 · PreprintGenetic & Genomic Medicine